Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene. 31783295

2019

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene. 21593220

2011

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. 9554743

1998

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE There is a correlation between R778L and hepatic manifestations in WD patient. 14966923

2004

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS. 31010795

2020

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE In the present study (i) we firstly observed that ApoE epsilon3/3 did not delay the onset of WD; (ii) no association between ApoE genotype and WD clinical presentation in Chinese Han children, including those patients homozygous for R778L. 16310588

2005

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. 11405812

2001

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA. 30558096

2018

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. 18034201

2008

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE In this study, we generated ATP7B site-directed point mutation rabbits to simulate a major mutation type in Asians (p. Arg778Leu) with Wilson disease (WD) by using the CRISPR/Cas9 system combined with single-strand DNA oligonucleotides (ssODNs). 29358698

2018

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia). 15554419

2004

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum. 10942420

2000

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations. 27706781

2016

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis. 24878384

2014

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE In contrast to direct DNA sequencing, direct mutation detection by using allele-specific probes is rapid and clinically very helpful, if a mutation occurs with a reasonable frequency in the population (ie, H1069Q in European WD patients or R778L in WD patients from the Far East). 16233999

2005

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles. 23275100

2013

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE The allele frequency of R778L in Korean patients with Wilson disease was 37.9%, which was significantly higher than those of Japanese and Taiwanese patients. 12544487

2003

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity. 17160357

2007

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE Taken together, we have provided further evidence that the His1069Gln mutation is the prevalent ATP7B mutation in central-european WD patients. 17660582

2007

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE The common His1069Gln mutation accounted for 42% of all WND chromosomes in the German series and the haplotype C was found to be highly predictive for this mutation. 9887381

1999

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE R778L mutation is mostly observed in Chinese, Japanese and Korean patients, whereas the H1069Q point mutation in the ATP7B gene is the most frequent mutation in European patients with WD. 16310588

2005

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. 15519648

2004

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE These results open the way to attempt developing a pharmacologically active peptide to specifically contrast the Wilson disease form caused by the ATP7B-H1069Q mutant. 29954118

2018

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE We screened 53 patients with Wilson's disease for the H1069Q mutation by the melting curve analysis. 11758609

2001

dbSNP: rs76151636
rs76151636
0.900 GeneticVariation BEFREE H1069Q mutation is highly prevalent in Romanian WD patients and first degree relatives, similar to other central and continental western European populations. 22720308

2012